Incidental Mutation 'R7850:Papln'
| ID |
606891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papln
|
| Ensembl Gene |
ENSMUSG00000021223 |
| Gene Name |
papilin, proteoglycan-like sulfated glycoprotein |
| Synonyms |
E030033C16Rik |
| MMRRC Submission |
045903-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7850 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83810408-83839156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83827436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 758
(E758V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021646]
[ENSMUST00000121733]
|
| AlphaFold |
Q9EPX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021646
AA Change: E736V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: E736V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
TSP1
|
30 |
81 |
3.36e-11 |
SMART |
|
low complexity region
|
147 |
161 |
N/A |
INTRINSIC |
|
Pfam:ADAM_spacer1
|
184 |
299 |
3.3e-39 |
PFAM |
|
TSP1
|
309 |
362 |
1.2e-7 |
SMART |
|
TSP1
|
366 |
426 |
2.76e-7 |
SMART |
|
TSP1
|
427 |
482 |
1.42e-9 |
SMART |
|
TSP1
|
488 |
540 |
2.47e-9 |
SMART |
|
low complexity region
|
604 |
621 |
N/A |
INTRINSIC |
|
KU
|
748 |
801 |
1.83e-22 |
SMART |
|
low complexity region
|
822 |
831 |
N/A |
INTRINSIC |
|
IGc2
|
917 |
980 |
2.88e-4 |
SMART |
|
IGc2
|
1056 |
1119 |
2.66e-17 |
SMART |
|
IGc2
|
1145 |
1209 |
2.13e-7 |
SMART |
|
Pfam:PLAC
|
1234 |
1268 |
2.3e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121733
AA Change: E758V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: E758V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
TSP1
|
30 |
81 |
3.36e-11 |
SMART |
|
low complexity region
|
147 |
161 |
N/A |
INTRINSIC |
|
Pfam:ADAM_spacer1
|
184 |
299 |
2.8e-38 |
PFAM |
|
TSP1
|
309 |
362 |
1.2e-7 |
SMART |
|
TSP1
|
388 |
448 |
1.82e-7 |
SMART |
|
TSP1
|
449 |
504 |
1.42e-9 |
SMART |
|
TSP1
|
510 |
562 |
2.47e-9 |
SMART |
|
low complexity region
|
626 |
643 |
N/A |
INTRINSIC |
|
KU
|
770 |
823 |
1.83e-22 |
SMART |
|
Pfam:Papilin_u7
|
831 |
922 |
1.9e-40 |
PFAM |
|
IGc2
|
939 |
1002 |
2.88e-4 |
SMART |
|
IGc2
|
1078 |
1141 |
2.66e-17 |
SMART |
|
IGc2
|
1167 |
1231 |
2.13e-7 |
SMART |
|
Pfam:PLAC
|
1257 |
1289 |
1.1e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.1867 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 97,869,328 (GRCm39) |
D2E |
probably damaging |
Het |
| Abhd16b |
G |
A |
2: 181,135,518 (GRCm39) |
R140H |
not run |
Het |
| Acad11 |
G |
T |
9: 103,991,728 (GRCm39) |
G588C |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,767,060 (GRCm39) |
E107D |
probably damaging |
Het |
| Bcas1 |
A |
G |
2: 170,190,023 (GRCm39) |
S625P |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,832 (GRCm39) |
L265F |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 135,998,786 (GRCm39) |
Y227C |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,402,575 (GRCm39) |
A848T |
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,739,720 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
G |
T |
7: 25,886,111 (GRCm39) |
E93* |
probably null |
Het |
| Dcp2 |
C |
A |
18: 44,533,415 (GRCm39) |
S122* |
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,079,745 (GRCm39) |
L456P |
probably damaging |
Het |
| Entpd8 |
T |
C |
2: 24,975,028 (GRCm39) |
M453T |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,114,703 (GRCm39) |
V1084D |
probably damaging |
Het |
| Grem1 |
A |
G |
2: 113,580,178 (GRCm39) |
C108R |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,392,069 (GRCm39) |
E880G |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 34,922,477 (GRCm39) |
M222K |
probably damaging |
Het |
| Htr1b |
G |
T |
9: 81,514,652 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
G |
5: 35,009,631 (GRCm39) |
|
probably null |
Het |
| Ifnab |
T |
G |
4: 88,609,133 (GRCm39) |
D111A |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,227,053 (GRCm39) |
L2207I |
probably benign |
Het |
| Itln1 |
T |
C |
1: 171,358,166 (GRCm39) |
Y194C |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,865,043 (GRCm39) |
D702E |
probably damaging |
Het |
| Knop1 |
T |
C |
7: 118,449,860 (GRCm39) |
E382G |
unknown |
Het |
| Lrit3 |
A |
C |
3: 129,594,452 (GRCm39) |
L42V |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,052,170 (GRCm39) |
E976G |
probably damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,996 (GRCm39) |
M167V |
probably benign |
Het |
| Or8g28 |
A |
T |
9: 39,169,518 (GRCm39) |
I150N |
possibly damaging |
Het |
| Or8s8 |
G |
A |
15: 98,354,949 (GRCm39) |
G253R |
probably damaging |
Het |
| Pcnx3 |
A |
C |
19: 5,728,960 (GRCm39) |
F967V |
possibly damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,602,842 (GRCm39) |
C368F |
probably benign |
Het |
| Pi15 |
T |
A |
1: 17,673,105 (GRCm39) |
Y101* |
probably null |
Het |
| Ppp1r9a |
G |
A |
6: 4,905,894 (GRCm39) |
V150M |
possibly damaging |
Het |
| Prrt4 |
A |
T |
6: 29,176,900 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
A |
G |
14: 45,090,828 (GRCm39) |
V310A |
probably benign |
Het |
| Ric1 |
G |
A |
19: 29,572,293 (GRCm39) |
S696N |
probably benign |
Het |
| Setx |
T |
A |
2: 29,037,430 (GRCm39) |
V1305D |
probably damaging |
Het |
| Slk |
G |
A |
19: 47,610,796 (GRCm39) |
R822H |
probably damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,383,072 (GRCm39) |
F204I |
probably benign |
Het |
| Tcaf3 |
A |
T |
6: 42,571,140 (GRCm39) |
|
probably null |
Het |
| Tmtc2 |
A |
G |
10: 105,409,568 (GRCm39) |
Y15H |
probably benign |
Het |
| Treml2 |
T |
C |
17: 48,615,168 (GRCm39) |
S218P |
probably benign |
Het |
| Tubb2a |
T |
C |
13: 34,258,554 (GRCm39) |
E412G |
probably damaging |
Het |
| Usp48 |
T |
G |
4: 137,333,060 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
A |
T |
6: 123,805,431 (GRCm39) |
N475K |
probably damaging |
Het |
| Zscan4-ps1 |
G |
A |
7: 10,799,735 (GRCm39) |
H385Y |
probably benign |
Het |
|
| Other mutations in Papln |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00824:Papln
|
APN |
12 |
83,817,210 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01788:Papln
|
APN |
12 |
83,822,236 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01889:Papln
|
APN |
12 |
83,833,609 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02499:Papln
|
APN |
12 |
83,827,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02567:Papln
|
APN |
12 |
83,825,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03150:Papln
|
APN |
12 |
83,829,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03331:Papln
|
APN |
12 |
83,830,435 (GRCm39) |
missense |
probably benign |
|
|
F5770:Papln
|
UTSW |
12 |
83,825,608 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0201:Papln
|
UTSW |
12 |
83,829,801 (GRCm39) |
splice site |
probably benign |
|
|
R0389:Papln
|
UTSW |
12 |
83,830,153 (GRCm39) |
nonsense |
probably null |
|
|
R0763:Papln
|
UTSW |
12 |
83,838,639 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1508:Papln
|
UTSW |
12 |
83,829,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1628:Papln
|
UTSW |
12 |
83,831,180 (GRCm39) |
splice site |
probably benign |
|
|
R1920:Papln
|
UTSW |
12 |
83,836,028 (GRCm39) |
nonsense |
probably null |
|
|
R1974:Papln
|
UTSW |
12 |
83,828,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2004:Papln
|
UTSW |
12 |
83,819,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Papln
|
UTSW |
12 |
83,827,010 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2876:Papln
|
UTSW |
12 |
83,825,701 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4199:Papln
|
UTSW |
12 |
83,830,166 (GRCm39) |
missense |
probably null |
0.01 |
|
R4702:Papln
|
UTSW |
12 |
83,828,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4705:Papln
|
UTSW |
12 |
83,823,982 (GRCm39) |
splice site |
probably null |
|
|
R4835:Papln
|
UTSW |
12 |
83,821,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4874:Papln
|
UTSW |
12 |
83,823,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4938:Papln
|
UTSW |
12 |
83,829,677 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5000:Papln
|
UTSW |
12 |
83,821,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5149:Papln
|
UTSW |
12 |
83,818,656 (GRCm39) |
splice site |
probably null |
|
|
R5324:Papln
|
UTSW |
12 |
83,821,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Papln
|
UTSW |
12 |
83,828,754 (GRCm39) |
missense |
probably benign |
|
|
R5881:Papln
|
UTSW |
12 |
83,818,652 (GRCm39) |
missense |
probably null |
0.91 |
|
R5977:Papln
|
UTSW |
12 |
83,831,143 (GRCm39) |
nonsense |
probably null |
|
|
R6035:Papln
|
UTSW |
12 |
83,821,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Papln
|
UTSW |
12 |
83,821,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Papln
|
UTSW |
12 |
83,829,789 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6461:Papln
|
UTSW |
12 |
83,828,587 (GRCm39) |
splice site |
probably null |
|
|
R6536:Papln
|
UTSW |
12 |
83,828,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Papln
|
UTSW |
12 |
83,821,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6898:Papln
|
UTSW |
12 |
83,824,234 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6953:Papln
|
UTSW |
12 |
83,828,659 (GRCm39) |
nonsense |
probably null |
|
|
R7155:Papln
|
UTSW |
12 |
83,823,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Papln
|
UTSW |
12 |
83,826,945 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7510:Papln
|
UTSW |
12 |
83,818,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7977:Papln
|
UTSW |
12 |
83,822,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7987:Papln
|
UTSW |
12 |
83,822,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Papln
|
UTSW |
12 |
83,821,715 (GRCm39) |
nonsense |
probably null |
|
|
R8324:Papln
|
UTSW |
12 |
83,833,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8466:Papln
|
UTSW |
12 |
83,825,255 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8743:Papln
|
UTSW |
12 |
83,829,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Papln
|
UTSW |
12 |
83,823,918 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9086:Papln
|
UTSW |
12 |
83,821,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9291:Papln
|
UTSW |
12 |
83,825,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9350:Papln
|
UTSW |
12 |
83,833,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9438:Papln
|
UTSW |
12 |
83,818,606 (GRCm39) |
missense |
probably benign |
|
|
R9484:Papln
|
UTSW |
12 |
83,838,618 (GRCm39) |
missense |
probably benign |
0.05 |
|
V7580:Papln
|
UTSW |
12 |
83,825,608 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
V7581:Papln
|
UTSW |
12 |
83,825,608 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
V7582:Papln
|
UTSW |
12 |
83,825,608 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Z1088:Papln
|
UTSW |
12 |
83,823,150 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTCTGACTCATAGCTGTG -3'
(R):5'- AAACATCTTAGATGCAGGGCC -3'
Sequencing Primer
(F):5'- TCCCTCTGGTCAGCCCAAG -3'
(R):5'- CGTCCCTCTGGCCTGGTATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation